Scanning the mitochondrial genome for mutations by cycling temperature capillary electrophoresis

Christian Arstad, Paulo Refinetti, David Warren, Karl Erik Giercksky, Per Olaf Ekstrøm

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

To bypass possible nuclear contamination and to exclusively amplify DNA from the mitochondrion, a set of 23 primers was selected. On the mitochondrial DNA selection fragments, a second set of fragments was used to amplify and identify mutant fractions with a detection limit of 1%. This mutation scanning method analyzed 76% of the mitochondrial genome and was used to examine 94 tumours from different tissues of origin. In all, 87 tumours had one or more mutations, leaving seven samples without observed mutations. Sanger sequencing verified samples carrying mutations with a mutant fraction exceeding 30%. The generated data validate that several regions of the mitochondrial DNA have more mutations than others.

Original languageEnglish (US)
Pages (from-to)19-30
Number of pages12
JournalMitochondrial DNA Part A: DNA Mapping, Sequencing, and Analysis
Volume29
Issue number1
DOIs
StatePublished - Jan 2 2018

Fingerprint

Mitochondrial Genome
Capillary Electrophoresis
Mutation
Temperature
Mitochondrial DNA
Limit of Detection
Neoplasms
Mitochondria
DNA

Keywords

  • DNA
  • cancer
  • cycling temperature capillary electrophoresis
  • mitochondrial genome
  • mutations

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics

Cite this

Scanning the mitochondrial genome for mutations by cycling temperature capillary electrophoresis. / Arstad, Christian; Refinetti, Paulo; Warren, David; Giercksky, Karl Erik; Ekstrøm, Per Olaf.

In: Mitochondrial DNA Part A: DNA Mapping, Sequencing, and Analysis, Vol. 29, No. 1, 02.01.2018, p. 19-30.

Research output: Contribution to journalArticle

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